Sugi Variant

Sugi Variant/TTBK1

TTBK1 — 244 ClinVar variants

All ClinVar germline TTBK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

2 Likely pathogenic · 7 Benign · 2 Benign/Likely benign · 18 Likely benign · 215 Uncertain significance

Full TTBK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 163

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 163

Predictors split 39

The independent predictors disagree with each other — read with care.

All TTBK1 variants

Likely pathogenic 2

Benign 7

Benign/Likely benign 2

Likely benign 18

Uncertain significance 215